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rs121918521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918521(C;T)
Make rs121918521(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position40597269
GeneATP6AP2
is asnp
is mentioned by
dbSNPrs121918521
ebirs121918521
HLIrs121918521
Exacrs121918521
Varsomers121918521
Maprs121918521
PheGenIrs121918521
hapmaprs121918521
1000 genomesrs121918521
hgdprs121918521
ensemblrs121918521
gopubmedrs121918521
geneviewrs121918521
scholarrs121918521
googlers121918521
pharmgkbrs121918521
gwascentralrs121918521
openSNPrs121918521
23andMers121918521
23andMe allrs121918521
SNP Nexus

SNPshotrs121918521
SNPdbers121918521
MSV3drs121918521
GWAS Ctlgrs121918521
Max Magnitude0
OMIM300556
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918521(T;T)
Alt rs121918521(T;T)
Reference rs121918521(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene ATP6AP2
CLNDBN Mental retardation, X-linked, syndromic, Hedera type
Reversed 0
HGVS NC_000023.10:g.40456521C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011548.5,